Homo sapiens Protein: PLEKHG5 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-227103.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | PLEKHG5 | ||||||||||||||||||||||
Protein Name | pleckstrin homology domain containing, family G (with RhoGef domain) member 5 | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000383704 | ||||||||||||||||||||||
InnateDB Gene | IDBG-87695 (PLEKHG5) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Guanine nucleotide exchange factor that activates RHOA and maybe the NF-kappa-B signaling pathway. Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. {ECO:0000269PubMed:11704860, ECO:0000269PubMed:12761501}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}. Cell junction {ECO:0000250}. Cell projection, lamellipodium {ECO:0000250}. Note=Predominantly cytoplasmic, however when cells are stimulated found in perinuclear regions. Localized at cell-cell junctions in quiescent endothelial cells, it relocalizes to cytoplasmic vesicle and the leading edge of lamellipodia in migrating endothelial cells (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4) [MIM:611067]: A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. DSMA4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent. {ECO:0000269PubMed:17564964}. Note=The disease is caused by mutations affecting the gene represented in this entry.Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC) [MIM:615376]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269PubMed:23777631, ECO:0000269PubMed:23844677}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Predominantly expressed in the peripheral nervous system and brain. Highest expression is observed in heart, lung, kidney, testis and moderate expression is present in spleen, pancreas, skeletal muscle, ovary and liver. Weakly expressed in glioblastoma (GBM) cell lines. {ECO:0000269PubMed:11704860, ECO:0000269PubMed:16467373, ECO:0000269PubMed:9872452}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000219
Dbl homology (DH) domain IPR001849 Pleckstrin homology domain IPR029071 Ubiquitin-related domain |
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PFAM |
PF00621
PF00169 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00325
SM00233 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O94827 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O94827 | ||||||||||||||||||||||
TrEMBL | B3KR92 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 57449 | ||||||||||||||||||||||
UniGene | Hs.619982 | ||||||||||||||||||||||
RefSeq | NP_001036130 | ||||||||||||||||||||||
HUGO | HGNC:29105 | ||||||||||||||||||||||
OMIM | 611101 | ||||||||||||||||||||||
CCDS | CCDS79 | ||||||||||||||||||||||
HPRD | 11104 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB018263 AB097001 AK091201 AK096347 AK131074 AK294875 AK299523 AL158217 AL591866 BC015231 BC042606 CH471130 | ||||||||||||||||||||||
GenPept | AAH15231 BAA34440 BAC77354 BAC85124 BAG52304 BAG53269 BAH11909 BAH13058 CAI16069 CAI22159 CAI22161 CAI22162 CAI22164 CAI22165 EAW71539 EAW71547 | ||||||||||||||||||||||